## Congenital erythropoietic porphyria (CEP) or Gt~nther's disease is an inborn error of heme biosynthesis transmitted as an autosomal recessive trait and characterized by a profound deficiency of uroporphyrinogen III synthase (UROIIIS) activity. We have previously described two missense mutations
Congenital erythropoietic porphyria: C73R is a hotspot mutation in the uroporphyrinogen III synthase gene
✍ Scribed by Lam, HaMut; Frank, Jorge; Wang, Xiuhua; Aita, Vincent M.; Jugert, Frank K.; Kalka, Katrin; Goerz, Günter; Merk, Hans F.; Christiano, Angela M.; Poh-Fitzpatrick, Maureen B.
- Book ID
- 119562636
- Publisher
- Elsevier Science
- Year
- 1998
- Tongue
- English
- Weight
- 163 KB
- Volume
- 16
- Category
- Article
- ISSN
- 0923-1811
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Congenital erythropoietic porphyria (CEP) is an autosomal recessive inborn error of metabolism that results from the markedly deficient activity of the fourth enzyme in the heme biosynthetic pathway, uroporphyrinogen 111 synthase (URO-synthase). T o date, 17 mutations have been described including 1
The molecular basis of the uroporphyrinogen III synthase (UROIIIS) deficiency was investigated in a member of a Japanese family. This defect in heme biosynthesis is responsible for a rare autosomal recessive disease: congenital erythropoietic porphyria (CEP) or Gu ¨nther's disease. The patient was h